Canonical Allele Identifier: CA1164248767
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097402_40097403delinsCG , CM000663.2:g.40097402_40097403delinsCG GRCh38
NC_000001.10:g.40563074_40563075delinsCG , CM000663.1:g.40563074_40563075delinsCG GRCh37
NC_000001.9:g.40335661_40335662delinsCG NCBI36
NG_009192.1:g.5068_5069delinsCG , LRG_690:g.5068_5069delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-165_-164delinsCG ENSP00000394863.3:n.-165_-164delinsCG
NM_000310.3:c.-165_-164delinsCG , LRG_690t1:c.-165_-164delinsCG NP_000301.1:n.-165_-164delinsCG
NM_001142604.1:c.-165_-164delinsCG NP_001136076.1:n.-165_-164delinsCG
NM_001363695.1:c.-165_-164delinsCG NP_001350624.1:n.-165_-164delinsCG